Primary Objective

Advances in DNA sequencing technologies have enabled genotyping of complexgenetic regions exhibiting copy number variation and high allelic diversity, yet it isimpossible to derive exact genotypes in all cases, often resulting in ambiguousgenotype calls. An example of such a gene region is the killer-cell immunoglobulin-likereceptor (KIR) genes. These genes are of special interest in the context of allogeneichematopoietic stem cell transplantation. For such complex gene regions, currenthaplotype reconstruction methods are not feasible as they cannot cope with thecomplexity of the data.

The department of Biomedical Data Sciences at LUMC in Leiden, The Netherlands,developed a new statistical algorithm to reconstruct haplotype frequencies byconsidering linkage disequilibrium between genes. The study was actively supportedby DKMS colleagues.

The KIR genotyping data were collected from more than 4000 hematopoietic stemcell donors and provided written informed consent at the Collaborative Biobank(CoBi). Approval for reuse of the data in the study was obtained from CoBi.